Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47310182A= | CA2262615959 | EFCAB13-DT,ITGB3 | c.2345A= (p.Asn782=) c.2266+2545A= n.363-6400T= n.227-6400T= | |
17 | g.47310182A>C | CA400034814 | EFCAB13-DT,ITGB3 | c.2345A>C (p.Asn782Thr) c.2266+2545A>C n.363-6400T>G n.227-6400T>G | |
17 | g.47310182A>G | CA400034816 | EFCAB13-DT,ITGB3 | c.2345A>G (p.Asn782Ser) c.2266+2545A>G n.363-6400T>C n.227-6400T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310182A>T | CA400034818 | EFCAB13-DT,ITGB3 | c.2345A>T (p.Asn782Ile) c.2266+2545A>T n.363-6400T>A n.227-6400T>A | |
17 | g.47310183T>A | CA400034820 | EFCAB13-DT,ITGB3 | c.2346T>A (p.Asn782Lys) c.2266+2546T>A n.363-6401A>T n.227-6401A>T | |
17 | g.47310183T>C | CA500439097 | EFCAB13-DT,ITGB3 | c.2346T>C (p.Asn782=) c.2266+2546T>C n.363-6401A>G n.227-6401A>G | COSMIC COSMIC |
17 | g.47310183T>G | CA400034821 | EFCAB13-DT,ITGB3 | c.2346T>G (p.Asn782Lys) c.2266+2546T>G n.363-6401A>C n.227-6401A>C | |
17 | g.47310184A>C | CA400034823 | EFCAB13-DT,ITGB3 | c.2347A>C (p.Ile783Leu) c.2266+2547A>C n.363-6402T>G n.227-6402T>G | |
17 | g.47310184A>G | CA400034825 | EFCAB13-DT,ITGB3 | c.2347A>G (p.Ile783Val) c.2266+2547A>G n.363-6402T>C n.227-6402T>C | gnomAD v4 |
17 | g.47310184A>T | CA400034827 | EFCAB13-DT,ITGB3 | c.2347A>T (p.Ile783Phe) c.2266+2547A>T n.363-6402T>A n.227-6402T>A | |
17 | g.47310185T>A | CA400034834 | EFCAB13-DT,ITGB3 | c.2348T>A (p.Ile783Asn) c.2266+2548T>A n.363-6403A>T n.227-6403A>T | |
17 | g.47310185T>C | CA400034829 | EFCAB13-DT,ITGB3 | c.2348T>C (p.Ile783Thr) c.2266+2548T>C n.363-6403A>G n.227-6403A>G | |
17 | g.47310185T>G | CA400034831 | EFCAB13-DT,ITGB3 | c.2348T>G (p.Ile783Ser) c.2266+2548T>G n.363-6403A>C n.227-6403A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47310185T= | CA2262615960 | EFCAB13-DT,ITGB3 | c.2348T= (p.Ile783=) c.2266+2548T= n.363-6403A= n.227-6403A= | |
17 | g.47310186C>A | CA500439102 | EFCAB13-DT,ITGB3 | c.2349C>A (p.Ile783=) c.2266+2549C>A n.363-6404G>T n.227-6404G>T | |
17 | g.47310186C>G | CA400034835 | EFCAB13-DT,ITGB3 | c.2349C>G (p.Ile783Met) c.2266+2549C>G n.363-6404G>C n.227-6404G>C | |
17 | g.47310186C>T | CA500439101 | EFCAB13-DT,ITGB3 | c.2349C>T (p.Ile783=) c.2266+2549C>T n.363-6404G>A n.227-6404G>A | |
17 | g.47310187A>C | CA400034837 | EFCAB13-DT,ITGB3 | c.2350A>C (p.Thr784Pro) c.2266+2550A>C n.363-6405T>G n.227-6405T>G | gnomAD v4 |
17 | g.47310187A>G | CA400034839 | EFCAB13-DT,ITGB3 | c.2350A>G (p.Thr784Ala) c.2266+2550A>G n.363-6405T>C n.227-6405T>C | |
17 | g.47310187A>T | CA400034840 | EFCAB13-DT,ITGB3 | c.2350A>T (p.Thr784Ser) c.2266+2550A>T n.363-6405T>A n.227-6405T>A | |
17 | g.47310189_47310192dup | CA645595642 | EFCAB13-DT,ITGB3 | c.2352_2355dup (p.Arg786ValfsTer?) c.2266+2552_2266+2555dup n.363-6408_363-6405dup n.227-6408_227-6405dup | COSMIC COSMIC |
17 | g.47310188C>A | CA400034843 | EFCAB13-DT,ITGB3 | c.2351C>A (p.Thr784Lys) c.2266+2551C>A n.363-6406G>T n.227-6406G>T | |
17 | g.47310188C= | CA2262615961 | EFCAB13-DT,ITGB3 | c.2351C= (p.Thr784=) c.2266+2551C= n.363-6406G= n.227-6406G= | |
17 | g.47310188C>G | CA400034844 | EFCAB13-DT,ITGB3 | c.2351C>G (p.Thr784Arg) c.2266+2551C>G n.363-6406G>C n.227-6406G>C | |
17 | g.47310188C>T | CA8623522 | EFCAB13-DT,ITGB3 | c.2351C>T (p.Thr784Met) c.2266+2551C>T n.363-6406G>A n.227-6406G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310189G>A | CA8623523 | EFCAB13-DT,ITGB3 | c.2352G>A (p.Thr784=) c.2266+2552G>A n.363-6407C>T n.227-6407C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310189G>C | CA500439105 | EFCAB13-DT,ITGB3 | c.2352G>C (p.Thr784=) c.2266+2552G>C n.363-6407C>G n.227-6407C>G | COSMIC COSMIC |
17 | g.47310189G= | CA2262615962 | EFCAB13-DT,ITGB3 | c.2352G= (p.Thr784=) c.2266+2552G= n.363-6407C= n.227-6407C= | |
17 | g.47310189G>T | CA500439104 | EFCAB13-DT,ITGB3 | c.2352G>T (p.Thr784=) c.2266+2552G>T n.363-6407C>A n.227-6407C>A | |
17 | g.47310190T>A | CA400034849 | EFCAB13-DT,ITGB3 | c.2353T>A (p.Tyr785Asn) c.2266+2553T>A n.363-6408A>T n.227-6408A>T | |
17 | g.47310190T>C | CA400034851 | EFCAB13-DT,ITGB3 | c.2353T>C (p.Tyr785His) c.2266+2553T>C n.363-6408A>G n.227-6408A>G | gnomAD v4 |
17 | g.47310190T>G | CA400034853 | EFCAB13-DT,ITGB3 | c.2353T>G (p.Tyr785Asp) c.2266+2553T>G n.363-6408A>C n.227-6408A>C | |
17 | g.47310191A= | CA2262615963 | EFCAB13-DT,ITGB3 | c.2354A= (p.Tyr785=) c.2266+2554A= n.363-6409T= n.227-6409T= | |
17 | g.47310191A>C | CA400034857 | EFCAB13-DT,ITGB3 | c.2354A>C (p.Tyr785Ser) c.2266+2554A>C n.363-6409T>G n.227-6409T>G | |
17 | g.47310191A>G | CA400034859 | EFCAB13-DT,ITGB3 | c.2354A>G (p.Tyr785Cys) c.2266+2554A>G n.363-6409T>C n.227-6409T>C | dbSNP |
17 | g.47310191A>T | CA400034855 | EFCAB13-DT,ITGB3 | c.2354A>T (p.Tyr785Phe) c.2266+2554A>T n.363-6409T>A n.227-6409T>A | |
17 | g.47310192C>A | CA400034861 | EFCAB13-DT,ITGB3 | c.2355C>A (p.Tyr785Ter) c.2266+2555C>A n.363-6410G>T n.227-6410G>T | |
17 | g.47310192C>G | CA400034862 | EFCAB13-DT,ITGB3 | c.2355C>G (p.Tyr785Ter) c.2266+2555C>G n.363-6410G>C n.227-6410G>C | |
17 | g.47310192C>T | CA500439109 | EFCAB13-DT,ITGB3 | c.2355C>T (p.Tyr785=) c.2266+2555C>T n.363-6410G>A n.227-6410G>A | |
17 | g.47310193C>A | CA500439110 | EFCAB13-DT,ITGB3 | c.2356C>A (p.Arg786=) c.2266+2556C>A n.363-6411G>T n.227-6411G>T | |
17 | g.47310193C= | CA2262615964 | EFCAB13-DT,ITGB3 | c.2356C= (p.Arg786=) c.2266+2556C= n.363-6411G= n.227-6411G= | |
17 | g.47310193C>G | CA400034865 | EFCAB13-DT,ITGB3 | c.2356C>G (p.Arg786Gly) c.2266+2556C>G n.363-6411G>C n.227-6411G>C | gnomAD v4 |
17 | g.47310193C>T | CA400034866 | EFCAB13-DT,ITGB3 | c.2356C>T (p.Arg786Trp) c.2266+2556C>T n.363-6411G>A n.227-6411G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310194G>A | CA8623524 | EFCAB13-DT,ITGB3 | c.2357G>A (p.Arg786Gln) c.2266+2557G>A n.363-6412C>T n.227-6412C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.47310194G>C | CA400034869 | EFCAB13-DT,ITGB3 | c.2357G>C (p.Arg786Pro) c.2266+2557G>C n.363-6412C>G n.227-6412C>G | |
17 | g.47310194G= | CA2262615965 | EFCAB13-DT,ITGB3 | c.2357G= (p.Arg786=) c.2266+2557G= n.363-6412C= n.227-6412C= | |
17 | g.47310194G>T | CA400034871 | EFCAB13-DT,ITGB3 | c.2357G>T (p.Arg786Leu) c.2266+2557G>T n.363-6412C>A n.227-6412C>A | |
17 | g.47310195G>A | CA500439116 | EFCAB13-DT,ITGB3 | c.2358G>A (p.Arg786=) c.2266+2558G>A n.363-6413C>T n.227-6413C>T | |
17 | g.47310195G>C | CA500439117 | EFCAB13-DT,ITGB3 | c.2358G>C (p.Arg786=) c.2266+2558G>C n.363-6413C>G n.227-6413C>G | |
17 | g.47310195G>T | CA500439118 | EFCAB13-DT,ITGB3 | c.2358G>T (p.Arg786=) c.2266+2558G>T n.363-6413C>A n.227-6413C>A |